Variant report

Variant	rs571181704
Chromosome Location	chr15:76635195-76635196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr15:76634830-76635239	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr15:76634558-76635254	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr15:76632466-76635489	H1-hESC	embryonic stem cell:	n/a	chr15:76635415-76635425
4	NANOG	chr15:76634876-76635252	H1-hESC	embryonic stem cell:	n/a	n/a
5	EGR1	chr15:76634767-76635217	H1-hESC	embryonic stem cell:	n/a	chr15:76634966-76634975
6	E2F6	chr15:76632411-76635905	H1-hESC	embryonic stem cell:	n/a	chr15:76635069-76635076 chr15:76634966-76634975 chr15:76635069-76635076 chr15:76634913-76634922 chr15:76635069-76635076 chr15:76635068-76635077 chr15:76635429-76635439 chr15:76635129-76635143 chr15:76635065-76635077 chr15:76633879-76633888
7	E2F6	chr15:76633333-76635539	H1-hESC	embryonic stem cell:	n/a	chr15:76635069-76635076 chr15:76634966-76634975 chr15:76635069-76635076 chr15:76634913-76634922 chr15:76635069-76635076 chr15:76635068-76635077 chr15:76635429-76635439 chr15:76635129-76635143 chr15:76635065-76635077 chr15:76633879-76633888
8	SUZ12	chr15:76628987-76637136	NT2-D1	testis:	n/a	n/a
9	ZNF143	chr15:76634605-76635231	H1-hESC	embryonic stem cell:	n/a	chr15:76634855-76634865
10	BACH1	chr15:76635138-76635241	H1-hESC	embryonic stem cell:	n/a	n/a
11	HMGN3	chr15:76634973-76635383	K562	blood:	n/a	n/a
12	POLR2A	chr15:76634852-76635559	K562	blood:	n/a	n/a
13	POLR2A	chr15:76634989-76636427	H1-neurons	neurons:	n/a	n/a
14	PAX5	chr15:76635154-76635382	GM12892	blood:	n/a	n/a
15	CTBP2	chr15:76631455-76635500	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr15:76633376-76635494	H1-hESC	embryonic stem cell:	n/a	chr15:76635415-76635425
17	POLR2A	chr15:76635090-76636307	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr15:76634673-76635370	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:76482702..76486394-chr15:76633656..76636389,3	K562	blood:
2	chr15:76481529..76484202-chr15:76633877..76636476,2	K562	blood:
3	chr15:76628671..76632944-chr15:76633969..76642252,10	MCF-7	breast:
4	chr15:76627980..76632315-chr15:76633215..76636196,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270036	TF binding region
ENSG00000259514	TF binding region
ENSG00000169758	Chromatin interaction
ENSG00000159556	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904399	chr15:76622903-76646575	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv827391	chr15:76626571-76636327	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv525769	chr15:76632487-76661925	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3396355	chr15:76633922-76636770	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76627400-76635400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr15:76630200-76641800	Weak transcription	A549	lung
3	chr15:76630400-76636400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:76630600-76635600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr15:76631600-76636400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:76631800-76635600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
7	chr15:76632200-76635600	Bivalent Enhancer	Fetal Brain Male	brain
8	chr15:76632400-76635600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:76632400-76636000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
10	chr15:76632800-76636000	Bivalent Enhancer	Left Ventricle	heart
11	chr15:76632800-76636200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:76633000-76635400	Enhancers	Gastric	stomach
13	chr15:76633000-76635600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
14	chr15:76633000-76635600	Bivalent Enhancer	Spleen	Spleen
15	chr15:76633000-76635800	Bivalent Enhancer	Fetal Heart	heart
16	chr15:76633200-76635600	Bivalent Enhancer	Liver	Liver
17	chr15:76633200-76635600	Bivalent Enhancer	Fetal Thymus	thymus
18	chr15:76633200-76636000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:76633400-76635200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:76633400-76635400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
21	chr15:76633400-76635400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
22	chr15:76633400-76635600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr15:76633400-76636000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
24	chr15:76633400-76636200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
25	chr15:76633400-76636200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:76633400-76637600	Weak transcription	Hela-S3	cervix
27	chr15:76633600-76635400	Bivalent Enhancer	Fetal Brain Female	brain
28	chr15:76633600-76636200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr15:76633600-76636200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr15:76634000-76636400	Bivalent Enhancer	Small Intestine	intestine
31	chr15:76634200-76635200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:76634200-76635200	Enhancers	Ovary	ovary
33	chr15:76634200-76635200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr15:76634200-76635400	Bivalent Enhancer	Adipose Nuclei	Adipose
35	chr15:76634200-76635400	Enhancers	Pancreas	Pancrea
36	chr15:76634200-76635600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:76634200-76636000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
38	chr15:76634400-76635200	Bivalent Enhancer	NH-A	brain
39	chr15:76634400-76635400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr15:76634400-76635400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr15:76634400-76635600	Bivalent Enhancer	Lung	lung
42	chr15:76634400-76635800	Weak transcription	K562	blood
43	chr15:76634400-76636000	Bivalent Enhancer	Primary B cells from cord blood	blood
44	chr15:76634400-76636400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
45	chr15:76634600-76635200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:76634600-76635400	Bivalent Enhancer	Fetal Stomach	stomach
47	chr15:76634600-76635400	Active TSS	Rectal Smooth Muscle	rectum
48	chr15:76634600-76635800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
49	chr15:76634600-76636000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr15:76634600-76636200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--

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